Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI

• DOI: 10.1073/pnas.121027598
• Publication Date: 2002-07-26T14:45:09Z
• Authors: Olga Camacho Vanegas; Enrico Bertini; Rui-Zhu Zhang; Stefania Petrini; Claudia Minosse; Patrizia Sabatelli; Betti Giusti; Mon-Li Chu; Guglielmina Pepe
• Keywords: Congenital muscular dystrophy; Collagen VI

Ullrich syndrome is a recessive congenital muscular dystrophy affecting connective tissue and muscle. The molecular basis unknown. Reverse transcription–PCR amplification performed on RNA extracted from fibroblasts or muscle of three patients followed by heteroduplex analysis displayed heteroduplexes in one the genes coding for collagen type VI (COL6). In patient A, we detected homozygous insertion C leading to premature termination codon triple-helical domain COL6A2 mRNA. Both healthy consanguineous parents were carriers. B, found deletion 28 nucleotides because an A → G substitution at nucleotide −2 intron 17 causing activation cryptic acceptor site inside exon 18. second mutation was skipping −1 23. mutations are present affected brother. first also mother, whereas carried their father. C, only so far—the same B. this case, it de novo mutation, as absent her parents. mRNA protein B showed very low amounts COL6. near total absence COL6 demonstrated immunofluorescence Our results demonstrate that caused severe reduction